Literature DB >> 25860343

Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.

Claudia Stendel1, Constanze Gallenmüller, Katrin Peters, Friederike Bürger, Gwendolyn Gramer, Saskia Biskup, Thomas Klopstock.   

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Year:  2015        PMID： 25860343     DOI： 10.1007/s00415-015-7729-0

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  7 in total

1.  Late-onset Tay-Sachs disease presenting as a childhood stutter.

Authors:  B E Shapiro; M R Natowicz
Journal:  J Neurol Neurosurg Psychiatry       Date:  2009-01       Impact factor: 10.154

2.  Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Authors:  Orit Neudorfer; Gregory M Pastores; Bai J Zeng; John Gianutsos; Charles M Zaroff; Edwin H Kolodny
Journal:  Genet Med       Date:  2005-02       Impact factor: 8.822

Review 3.  The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Authors:  Gustavo H B Maegawa; Tracy Stockley; Michael Tropak; Brenda Banwell; Susan Blaser; Fernando Kok; Roberto Giugliani; Don Mahuran; Joe T R Clarke
Journal:  Pediatrics       Date:  2006-10-02       Impact factor: 7.124

Review 4.  Neuropsychiatric aspects of the adult variant of Tay-Sachs disease.

Authors:  G M MacQueen; P I Rosebush; M F Mazurek
Journal:  J Neuropsychiatry Clin Neurosci       Date:  1998       Impact factor: 2.198

5.  A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.

Authors:  B H Paw; L C Wood; E F Neufeld
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

6.  Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.

Authors:  B H Paw; M M Kaback; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

7.  The Human Gene Mutation Database: 2008 update.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick St Thomas; David N Cooper
Journal:  Genome Med       Date:  2009-01-22       Impact factor: 11.117
  7 in total
  2 in total

Review 1.  Nosology and Phenomenology of Psychosis in Movement Disorders.

Authors:  Malco Rossi; Nicole Farcy; Sergio E Starkstein; Marcelo Merello
Journal:  Mov Disord Clin Pract       Date:  2020-01-07

2.  Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Authors:  Li Ou; Sarah Kim; Chester B Whitley; Jeanine R Jarnes-Utz
Journal:  Mol Genet Metab Rep       Date:  2019-07-17
  2 in total

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